ClinVar Miner

List of intergenic variants reported as likely pathogenic for Epicanthus; Telecanthus; Global developmental delay; Hyperactivity; Growth delay; Abnormal facial shape; Anteverted nares; Wide nasal bridge; Thin upper lip vermilion; Cerebral calcification; Speech articulation difficulties; Midface retrusion; Short palpebral fissure

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
46;XX;t(6;15)(q23;q22)dn

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